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Diagnosis and Current Treatment Strategies for Adult and Juvenile Hereditary Hemochromatosis
No full textHemochromatosis is a common genetic disorder manifesting as an iron overload state requiring complex processes in diagnosis, treatment, and management of both adult, and pediatric, populations. This review outlines general diagnostic and treatment strategies for hemochromatosis detailing fundamental processes in iron excess, or iron overload, through physiologic function and associated pathological effects. Genetic mutations, as ascribed to hemochromatosis, have significant impact in producing pathophysiology. Understanding basic pathophysiological mechanisms can inform future diagnosis and treatment through advances such as erythrocytophoresis. Linking concepts related to the diagnosis, treatment, and management of adult and juvenile hereditary hemochromatosis with scientific advances may enlighten clinical medicine and future hemochromatosis therapy
Opiate Withdrawal-Associated Esotropia: A Case Report and Systematic Review
Get PDFEsotropia, which is the medial deviation of one or both eyes, is a rare withdrawal symptom that has been associated with opiate addiction. We report a case of a 36-year-old female patient who developed acute-onset esotropia and diplopia after self-admission to a psychiatric facility for fentanyl addiction treatment and a systematic review of this rare presentation. A search of four databases (PubMed, Scopus, Embase, and Google Scholar) was conducted as of January 2024. We found 15 documented cases of opiate withdrawal-associated esotropia, with an average age of 27.2 years and an average time between last use and symptom onset of 5.61 days. The most common symptom was diplopia, especially binocular diplopia, and the majority of cases resolved without pharmacologic intervention. Considering the current opioid crisis, our systematic review and case report add valuable insight into the less-explored neurological and ophthalmological consequences of opiate withdrawal, a condition that should always be considered in cases of acute or chronic onset esotropia
Fruquintinib-Induced Cerebellar Hemorrhage in Left-Sided Descending Metastatic Colorectal Adenocarcinoma: A Case Report and Risk Assessment
Get PDFColorectal adenocarcinoma is the most prevalent form of colorectal cancer, representing the majority of cases in the United States. The disease is driven by a series of genetic mutations, including alterations in the adenomatous polyposis coli (APC), Kirsten rat sarcoma viral oncogene homolog G12D (KRAS), human epidermal growth factor receptor 2 immunohistochemistry 3+ (HER-2 IHC3+), checkpoint kinase 2 (CHEK-2) and tumor protein P53 (TP53) genes, which lead to malignant transformation. While the standard treatment for metastatic colorectal cancer (mCRC) typically involves chemotherapy and targeted therapies, many patients experience disease progression, necessitating the exploration of novel treatments. Fruquintinib, a highly selective vascular endothelial growth factor (VEGFR) inhibitor, has emerged as a promising option for mCRC patients who have exhausted conventional therapies. However, its use is associated with significant bleeding risks, including rare but severe complications such as cerebellar hemorrhage. This case report presents a patient with mCRC who developed a cerebellar hemorrhage shortly after initiating fruquintinib therapy, highlighting the need for careful patient monitoring and individualized risk assessment to mitigate such serious adverse events
When Surviving is Not Safe: A Conceptualization of Coping Strategies used with African American Medical Students
No full textThis dissertation joins a fervent conversation within social science about how students of color navigate Critical Race Theory (CRT) while being impacted by the demands of an academic environment. Research shows that African American students are prone to racist encounters in and outside of the academic arena. Findings suggest that a trickledown effect occurs when people of color are negatively impacted by microaggressions, their stress response system is also impacted. Dr. William A. Smith has noted the cumulative result of race-related stress in people of color when constantly dealing with environments that project dismissive, demeaning, and hostile encounters. He coined the term Racial Battle Fatigue (RBF) to allude to the physiological and psychological symptomology of race related stress. RBF is the point of exhaustion in the stress response system and the convalescence of coping used that this dissertation investigates.
This study explored specifically whether Black students appraise themselves as operating from a higher coping mechanism than their White colleagues, along with the examination of coping methods utilized to advance beyond stressors. Results revealed that participants did not assess themselves as operating from a higher coping mechanism but did recognize that their stressors were discrete from their White colleagues. Coping was considered a way of life that included selfcare activities, spiritual resources, and therapeutic or communal supports. Two central themes arose to include proactive and adaptive coping. Proactive coping was seen to minimize the stressor before it occurred as seen with self-care practices. While adaptative coping attempted to prevent the stressor from occurring with such things as prayer and meditation. This research utilized a mixed methodology to conceptualize the student’s coping capacity in depth, while responding to an empirical need to understand the resolve of African American medical students by improving upon strength-based approaches to thrive effectively in communities and academic settings
A Retrospective Review: Our Experience With an Adhesive-Based Pigmented Lesion Assay Used to Evaluate Cutaneous Lesions Suspicious for Melanoma
No full textBackground: Being one of the largest dermatology groups in the country with an in-house pathology laboratory, we have seen a significant increase in the number of adhesive-based pigmented lesion assays (ABPLAs) in addition to biopsies and excisions following a moderate-risk or high-risk result with this test.
Objective: To report our clinical experience and independently confirm that our results with this ABPLA (Pigmented lesion assay, DermTech. San Diego, CA) are consistent with the results of the validation studies completed by the test manufacturer.
Methods: A retrospective review of our electronic medical records for results of ABPLAs, corresponding histopathologic results and available clinical follow-up, along with their statistical analysis was completed.
Results: After reviewing our electronic medical records, we found that 893 ABPLAs for pigmented lesions concerning for melanoma were obtained in a period of 14 months. Of the 893 ABPLAs completed, 161 biopsies and excisions were performed after the initial results of these assays. Additional clinical follow-up data were recorded and used for the statistical analysis of the performance and accuracy of this test.
Limitations: The small number of lesions reported as low risk for melanoma with corresponding histopathologic results limits our evaluation of the performance of this test. In addition, there may have been some melanomas that were not identified because the duration of the clinical follow-up was insufficient or because some patients were lost to follow-up.
Conclusion: In our experience this ABPLA has a sensitivity of 92.0%, a specificity of 79.5%, a positive predictive value of 16.9%, and a negative predictive value of 99.5% for the detection of melanoma
Reconstruction of the Extensor Mechanism Using Polypropylene Mesh in a Displaced Pathological Fracture of the Patella Affected by Giant Cell Tumour
No full textA man in his 30s came to our clinic with a year-long history of progressive pain and swelling in his knee. Diagnostic imaging revealed a displaced patellar fracture with an osteolytic, septated lesion and thinned expanded cortex in both fracture fragments. A core needle biopsy confirmed the diagnosis of giant cell tumour. Treatment involved wide excision of the tumour and the use of polypropylene mesh and a peroneal longus tendon autograft to reconstruct the extensor mechanism of the knee joint. One year postoperatively, the patient experienced no pain, demonstrated full range of motion and showed no signs of functional impairment or local tumour recurrence. This case highlights that reconstruction of the extensor mechanism of the knee after tumour excision with synthetic mesh is an affordable, user-friendly and widely accessible method. It can address large defects effectively while minimising the risks of disease transmission and graft lengthening, resulting in satisfactory outcomes
Delusive Nature of Flip-Flop Sign Secondary to Histoplasmosis
Get PDFHistoplasmosis, caused by Histoplasma capsulatum, often mimics the appearance of lung cancer on fludeoxyglucose (FDG) positron emission tomography (PET) scans. The “flip-flop fungus,” due to its similar presentation on imaging modalities, can lead to false-positive results and unnecessary invasive testing. We present a 46-year-old male patient with a lung nodule and bilateral hilar lymphadenopathy on an FDG-PET scan who initially presented with chest discomfort. Histoplasma infection was confirmed through Grocott\u27s methenamine silver (GMS) stains on bronchoscopy-guided biopsy specimens. An analysis of additional cases from the literature highlighted the diverse clinical presentations and outcomes associated with this condition that may be mistaken for other pathology on PET scans, which in this scenario is known as the “flip-flop fungus” sign. Despite the rarity of this condition, the accurate interpretation of PET findings greatly improves patient management strategies and avoids unnecessary invasive testing
Cefepime-Induced Encephalopathy in Patients Treated for Urinary Tract Infection
Get PDFCefepime is a fourth-generation cephalosporin antibiotic administered intravenously used to treat various bacterial infections, including urinary tract infections. Administering cefepime to patients should be done with caution, understanding both potential risks and side effects. A 74-year-old female presented to the family medicine clinic with abdominal pain and a history of urinary tract infections. The workup included a CT scan that showed bowel obstruction and bladder wall thickening. Due to a history of urinary tract infections, three days following the presentation, the patient underwent an explorative laparotomy. Following the laparotomy, the patient was started on cefepime, a fourth-generation cephalosporin antibiotic. Five days following the initial presentation, the patient became confused and was nonverbal. An encephalopathy workup showed a negative MRI, but an EEG was consistent with encephalopathy. Cefepime was discontinued. Forty-eight hours after cefepime was discontinued, the patient returned to baseline with normal cognitive function. It is crucial that clinicians understand the different classifications of antibiotics, as well as the drugs and potential side effects of prescriptions. Cefepime can be used in gram-negative infections with resistance to more generic antibiotics. It has the ability to cross the blood-brain barrier, making it effective in treating meningitis. It has also been shown to cause encephalopathy as a side effect. It is important that clinicians understand the different generations of cephalosporins, as well as the cross-reactions and potential side effects of prescriptions. These factors must be considered when prescribing broad-spectrum antibiotics, such as cefepime